Variant (rsID / SNP)

rs387907377

rs387907377 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC40A1. Location: chromosome 2, position 190,430,230. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SLC40A1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:190430230
Cytoband: 2q32.2
HGVS: NM_014585.6(SLC40A1):c.610G>A (p.Gly204Ser)
Allele change: Missense_G204S

Associated conditions / phenotypes

Hemochromatosis type 4

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.